ClinVar Miner

List of variants studied for hemophilia A by Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NC_000023.11:g.155026937_155027122del rs2073793798
NG_011403.1:g.2114_5221del
NM_000132.4(F8):c.143+1116_143+1742del rs2073755958
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1784T>C (p.Phe595Ser) rs2073351165
NM_000132.4(F8):c.1812G>A (p.Trp604Ter) rs137852426
NM_000132.4(F8):c.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2627T>A (p.Leu876Ter) rs2073195449
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter) rs2073182544
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.5587-2A>G rs2073027912
NM_000132.4(F8):c.5724del (p.Trp1908fs) rs2073026512
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter) rs2072977865
NM_000132.4(F8):c.6429+16424_6430-16424inv
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter) rs1377166595
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) rs2072682503
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) rs2072681848
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs) rs1356674990
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.788-1G>C rs2073445259

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